What is phenylketonuria (PKU)? Symptoms and Treatment

Phenylketonuria (PKU)is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. phenylalanine found in all proteins and some artificial sweeteners.

Phenylalanine hydroxylase is an enzyme that the body uses to convert phenylalanine to tyrosine, which the body needs to create neurotransmitters such as epinephrine, norepinephrine, and dopamine.

Phenylketonuriais caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, the body cannot break down phenylalanine. This causes phenylalanine to build up in the body.

Babies are screened for PKU shortly after birth. Early diagnosis and treatment, symptoms of phenylketonuria disease it can alleviate and prevent brain damage.

What Are the Symptoms of Phenylketonuria?

PKU symptoms can range from mild to severe. The most severe form of this disease classic phenylketonuria known as. 

A baby with classic PKU may appear normal for the first few months of life. During this time the baby phenyltonuria If left untreated, he will begin to develop the following symptoms:

Seizures

- Shivering

Insufficient growth

Hyperactivity

- Eczema skin diseases such as

Musty odor of breath, skin, or urine

Phenylketonuria If it is not diagnosed at birth and treatment is not started quickly, the disease can cause:

Irreversible brain damage and mental disability in the first few months of life

Behavioral problems and seizures in older children

A less severe form of PKU is called variant PKU or non-PKU hyperphenylalaninemia. This occurs when there is too much phenylalanine in the baby's body.

Babies with this form of the disease may only have mild symptoms, but they will need to follow a special diet to avoid mental disabilities.

When a certain diet and other necessary treatments are initiated, symptoms begin to subside. Phenylketonuria dietPeople who manage their health properly usually do not show any symptoms.

What Causes Phenylketonuria?

Phenylketonuria diseaseIs an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for the breakdown of phenylalanine.

A dangerous build-up of phenylalanine can occur when someone eats high-protein foods such as eggs and meat.

Both parents must have a defective version of the PAH gene for the child to inherit the disorder. If this gene is passed on from only one parent, the child will not have any symptoms but will be the carrier of the gene.

Phenylketonuria types are as follows;

The severity of phenylketonuria varies depending on the type.

Classic PKU

The most severe form of the disorder is called classic PKU. The enzyme needed to convert phenylalanine is missing or severely reduced, resulting in high levels of phenylalanine and serious brain damage.

Less severe forms of PKU

In mild or moderate forms, the enzyme retains some of its functions, so phenylalanine levels are not that high, reducing the risk of significant brain damage.

However, most children with the disorder find it difficult to prevent intellectual disability and other complications. phenylketonuria diet should follow

Pregnancy and Phenylketonuria

Phenylketonuria Women who are pregnant and become pregnant are at risk for another form of the condition called maternal PKU. 

women before and during pregnancy phenylketonuria dietIf they are not followed properly, blood phenylalanine levels may rise and harm the developing fetus or cause miscarriage.

Even women with less severe forms of PKU, phenylketonuria dietFailure to comply may put their unborn children at risk.

Babies born to mothers with high phenylalanine levels are usually phenylketonuria diseaseThey do not inherit. However, if the mother's blood level of phenylalanine is high during pregnancy, it can have serious consequences. Complications at birth include:

Low birth weight

– Delayed development

– facial abnormalities

– Abnormally small head

– Heart defects and other heart problems

Mental handicap

– Behavioral problems 

What Are the Risk Factors for Phenylketonuria Disease?

Risk factors for inheriting phenylketonuria are:

Both parents have a defective gene that causes PKU

Two parents must pass on one copy of the defective gene for their child to develop the condition.

have a specific ethnicity

Phenylketonuria diseaseThe gene defect that causes rheumatoid arthritis varies by ethnic group and is less common in African-Americans than in other ethnic groups.

Phenylketonuria Disease Complications

untreated phenylketonuria diseasecan lead to complications in infants, children, and adults with the disorder.

with phenylketonuria When mothers have high blood phenylalanine levels during pregnancy, fetal birth defects or miscarriage can occur.

untreated phenylketonuria disease can lead to:

– Irreversible brain damage and significant intellectual disability beginning in the first few months of life

Neurological problems such as seizures and tremors

– Behavioral, emotional and social problems in older children and adults

– Major health and developmental issues

Phenylketonuria Screening

Phenylketonuria (PKU) Test

The doctor draws a few drops of blood from the baby's heel to test for PKU and other genetic conditions. The screening test is done when the baby is one to two days old and still in hospital.

Additional tests may be done to confirm preliminary results. These tests look for the presence of the PAH gene mutation that causes PKU. These tests are usually done six weeks after birth.

If a child or adult shows signs of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a blood sample and analyzing it for the presence of the enzyme needed to break down phenylalanine.

Phenylketonuria Treatment

Phenylketonuria People with heart disease can relieve symptoms and prevent complications by following a special diet and taking medication.

Phenylketonuria Diet

The main way to treat PKU is through a special diet that limits foods containing phenylalanine. Babies with PKU can be breastfed.

They also need to consume a special formula known as Lofenalac. When the baby is old enough to eat solids, it is necessary to avoid allowing them to eat foods high in protein. These foods are:

- Egg

Cheese

- Hazelnut

- milk

- Beans

- Chicken

- Beef

- The fish

It's important to note that PKU meal plans differ from person to person. People with PKU need to work closely with a doctor or dietician to maintain a proper nutritional balance while limiting their phenylalanine intake.

They also have to monitor phenylalanine levels by keeping records of the amount of phenylalanine in the food they eat throughout the day. 

Medicine

PKU treatment Sapropterin (Kuvan) is used for Sapropterin helps lower phenylalanine levels.

This medication should be used in conjunction with a specific PKU meal plan. However, it is not effective for everyone with PKU. It is more effective in children with mild cases of PKU.

When to see a doctor

In these cases, it is necessary to seek medical help:

newborns

If routine newborn screening tests show that the baby may have PKU, the child's doctor will want to start diet therapy right away to prevent long-term problems.

women of childbearing age

It is especially important for women with a history of PKU to see a doctor before and during pregnancy and maintain a PKU diet to reduce the risk that high blood phenylalanine levels will harm their unborn baby.

Adults

People with PKU continue to receive care throughout their lives. Adults with PKU who stop the PKU diet at puberty should see a doctor.

Going back to the diet can improve mental functioning and behavior and slow the damage to the central nervous system that can result from high phenylalanine levels.

Those with phenylketonuria;

Phenylketonuria patientsshortly after birth phenylketonuria nutrition If they follow his plan closely, there is no problem.

Brain damage can occur when diagnosis and treatment are delayed. Mental retardation may occur. Untreated PKU can have the following consequences:

Delayed development

Behavioral and emotional problems

Neurological problems such as tremors and seizures

Can Phenylketonuria Be Prevented?

Phenylketonuria is a genetic conditionTherefore, it cannot be avoided. However, an enzyme experiment can be done for people planning to have children.

This enzyme assay is a blood test that can determine if someone carries the defective gene that causes PKU. The test can also be done during pregnancy to screen unborn babies for PKU.

Phenylketonuria If you have, you can avoid symptoms by following a regular diet plan throughout your life.